Article
Deficiency of UDP-GlcNAc:Dolichol Phosphate N-Acetylglucosamine-1 Phosphate Transferase (DPAGT1) causes a novel congenital disorder of Glycosylation Type Ij.
Human mutation - 1 Aug 2003
Wu Xiaohua, Rush Jeffrey S, Karaoglu Denise, Krasnewich Donna, Lubinsky Mark S, Waechter Charles J, Gilmore Reid, Freeze Hudson H
Abstract excerpt
Defects in the assembly of dolichol-linked oligosaccharide or its transfer to proteins result in severe, multi-system human diseases called Type I congenital disorders of glycosylation. We have identified a novel CDG type, CDG-Ij, resulting from deficiency in UDP-GlcNAc: dolichol phosphate N-acetyl-glucosamine-1 phosphate transferase (GPT) activity encoded by DPAGT1. The patient presents with severe hypotonia,...
Topics
- Alleles
- Amino Acid Sequence
- Animals
- CHO Cells
- Carbohydrate Metabolism, Inborn Errors
- Cell Line
- Cells, Cultured
- Child
- Cricetinae
- Female
- Fibroblasts
- Fungal Proteins
- Glycosylation